Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

Introduction: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations.

Methods: This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist.

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS.

Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome.

Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-term psychological functioning after oxandrolone (Ox) therapy during childhood in adults with TS in terms of neurocognition, quality of life and social-emotional functioning.

Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.

Objective: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox).

Study Design: Double-blind follow-up study.

Setting: University hospital.

Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use.

There has been no consensus regarding the efficacy and safety of oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS), the optimal age of starting this treatment, or the optimal dose. This collaborative venture between Dutch, UK and US centers is intended to give a summary of the data from three recently published randomized, placebo-controlled, double-blind studies on the effects of Ox. The published papers from these studies were reviewed within the group of authors to reach consensus about the recommendations.

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

Turner syndrome (TS) is the result of (partial) X chromosome monosomy. In general, the diagnosis is based on karyotyping of 30 blood lymphocytes. This technique, however, does not rule out tissue mosaicism or low grade mosaicism in the blood.

Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome.

Objective: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.

Context: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis.

Objective: Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients.

Ear and hearing problems in relation to karyotype in children with Turner syndrome.

The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.

Usefulness of intraoperative parathyroid hormone measurements in patients with renal hyperparathyroidism.

Background: In renal hyperparathyroidism, it remains unclear whether intraoperative parathyroid hormone (PTH) measurements can predict postoperative outcome and guide the extent of surgical exploration.

Methods: In 42 parathyroidectomies for renal hyperparathyroidism, we analyzed the predictive value of the Miami Criterion of 50% intraoperative PTH decrease. We used receiver operating characteristic (ROC) curves to find the criterion with the best diagnostic performance.

[Intraoperative parathyroid hormone measurement in patients with primary hyperparathyroidism; particularly valuable for suspected solitary parathyroid adenoma and re-operation].

Objective: Analysis of the value of intraoperative parathormone (PTH) measurement in patients with primary hyperparathyroidism.

Design: Prospective study.

Method: Evaluation of the value of intraoperative measurement ofPTH in 75 patients (including 19 patients with multiple endocrine neoplasia(MEN)-1 syndrome) who underwent parathyroidectomy in 2001-2005.

[Turner syndrome in adulthood: the need for multidisciplinary care].

Turner syndrome is the result of the complete or partial absence of one X-chromosome. As well as short stature and gonadal dysgenesis, a wide range of abnormalities which may not present themselves until adulthood, are seen in nearly every organ system. Adult women with this syndrome have a reduced estimated life expectancy due to the greatly increased risk of structural abnormalities of the heart and aorta, and of other cardiovascular disease.

[Determining aldosterone in the adrenal veins in order to establish uni- or bilateral aldosterone production in patients with primary hyperaldosteronism].

In 3 patients, men aged 60, 55 and 60, respectively, with hypertension due to primary hyperaldosteronism, the aldosterone level in the adrenal veins was determined for the purpose of further diagnosis. In two patients, unilateral adrenal enlargement on the CT-scan was accompanied by overproduction ofaldosterone, in one case in a non-enlarged adrenal gland and in the other case in both adrenals. The first patient underwent adrenalectomy of the non-enlarged adrenal gland, while in the second patient surgery was decided against.

COS-7 cells stably transfected to express the human ETB receptor provide a useful screen for endothelin receptor antagonists.

Endothelin acts via specific membrane-bound receptors through signal transduction pathways that include increases in intracellular free calcium and inositol triphosphate generation. Two endothelin receptors have been cloned. The ETA receptor is ET-1 selective, and the ETB receptor is isopeptide nonselective.